Conclusion

- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist

Diagnosis of neurometabolic disorders always poses difficulty to
physicians. This is mainly due to the fact that these disorders are
rare and most of them share common clinical manifestations. The main
obstacle to making an accurate diagnosis is a failure in considering
the possibility clinically. Definitive long-term treatment usually
requires that a specific diagnosis is made. With the progress of basic
science and technology over the past century, the pathogenesis of these
disorders has been understood clearly. This knowledge has opened a
possibility of therapeutic intervention for many of these disorders.